ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1606C>T (p.Pro536Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003044043 SCV003338738 uncertain significance Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-04-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CARD11-related conditions. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 536 of the CARD11 protein (p.Pro536Ser). This variant is not present in population databases (gnomAD no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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